ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.360G>A (p.Ala120=)

gnomAD frequency: 0.00058  dbSNP: rs568106106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874398 SCV001016569 likely benign Immunodeficiency 25 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711345 SCV005258030 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948211 SCV004766270 likely benign CD247-related disorder 2019-11-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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